Results 101 to 110 of about 35,983 (255)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Temperature‐Controlled Radiofrequency for Severe Nasal Airway Obstruction: A Non‐Inferiority Comparison With Surgical Intervention

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Temperature‐controlled radiofrequency (TCRF), septoplasty (ST) with turbinate reduction, and functional rhinoplasty (FR) are treatment options for nasal airway obstruction (NAO) and nasal valve dysfunction (NVD), but no direct comparison of these procedures has been performed. Methods This prospective, open‐label, non‐inferiority (
Greg Davis, Zeeshan Aziz, Jose Barrera, William Blythe, Chris Davis, Steven Davis, Thomas Higgins, Charles Lano, Gregory Levitin, Frederick Lopatin, Samuel Oyer, Stacey Silvers, Ariel Waitzman, Randall Ow   +13 more
wiley   +1 more source

Research on Diaphragm Pump Fault Diagnosis Method Based on Res‐DCB‐Net

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Nonstationary pressure pulsation signals of diaphragm pumps contain strong background noise and coupled characteristics. This makes it challenging to extract incipient fault features and to decouple faults with similar physical mechanisms. To address these limitations, this paper proposes a spatiotemporal fault diagnosis model named Res‐DCB ...
Jiahui Wang, Kaili Zhang, Yongxing Song, Zhaoxin Ma, Sitong Guan, Rongwang Chai, Kexiang Ceng, Jingting Liu   +7 more
wiley   +1 more source

Cardiac morphological and morphometric analysis of Ardea alba

The Anatomical Record, EarlyView.
Abstract Ardea alba (Linnaeus, 1758) is a widely distributed heron species whose cardiovascular morphology remains poorly described. This study aimed to characterize the cardiac morphology and morphometry of adult A. alba. Ten specimens were analyzed using radiographic, morphometric, histological, scanning electron microscopy, and three‐dimensional ...
Julia Vaz Feio, Max Alex Santos Ferreira, Elane Guerreiro Giese, Érika Branco, Antônio Basílio Guerreiro Junior, Ana Rita de Lima   +5 more
wiley   +1 more source

SOX6 is expressed in various cell lineages in the developing mouse heart and contributes to proper valvuloseptal development

The Anatomical Record, EarlyView.
Abstract Cells derived from the endocardium, epicardium, cardiac neural crest, and second heart field play a critical role in the formation of the valvuloseptal structures of the heart. Previous studies have shown that the expression of the transcription factor SOX9 in these cell populations is essential in the regulation of this process.
Hannah G. Tarolli, Andrew B. Harvey, Inara Devji, Raymond N. Deepe, Jenna R. Drummond, Renélyn A. Wolters, Andy Wessels   +6 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Case‐malformed signal detection and prioritisation using EUROmediCAT data for pharmacovigilance in pregnancy

British Journal of Clinical Pharmacology, EarlyView.
Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson, Helen Dolk, Maria Loane, Christine Damase‐Michel, Joanne Given, Hedvig Nordeng, Jorieke E. H. Bergman, Iain Carey, Elly Den Hond, Ester Garne, Florence Rouget, Lea Bruneau, Isabelle Monier, Anke Rissmann, Mary O'Mahony, Miriam Gatt, Renée Lutke, Joanna Sichitiu, Elisa Ballardini, Alessio Coi, Clara Cavero Carbonell, David Tucker, Joan Morris   +22 more
wiley   +1 more source

MT‐RNR1 genotype testing for preventing aminoglycoside‐mediated ototoxicity: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

British Journal of Clinical Pharmacology, EarlyView.
Aminoglycosides are broad‐spectrum antibiotics used in the management of severe infections. Aminoglycosides are associated with nephrotoxicity and ototoxicity. Although dosing strategies such as once‐daily administration and therapeutic drug monitoring have reduced the incidence of nephrotoxicity, ototoxicity remains unpredictable and may occur at ...
John H. McDermott, Sian Hilton, Cinzia Dello Russo, Nicola Booth, Simon Drysdale, Philip Howard, Stephen Hughes, Mallinath Chakraborty, Helen McDevitt, Charlotte Alston, Maya Desai, Mike Beadsworth, Adam Reynolds, Serim Min, Katherine Payne, Munir Pirmohamed, William G. Newman   +16 more
wiley   +1 more source

Mobile health interventions to improve adherence to oral anticoagulant treatment: A systematic review and critical analysis

British Journal of Clinical Pharmacology, EarlyView.
Aims Non‐adherence to oral anticoagulants (OACs) is associated with significant morbidity and mortality. Mobile health (mHealth) interventions have been used to improve medication adherence across the three phases of initiation, implementation and persistence.
Non Davies, Elin Haf Davies, Dyfrig A. Hughes   +2 more
wiley   +1 more source